galactosemia

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galactosemia

(gəlăk'təsē`mēə), inherited metabolic disorder caused by an enzyme deficiency and transmitted as a recessive trait; it results in the accumulation of the sugar galactose in the body. The disorder is manifested soon after birth by feeding problems and diarrhea. Galactose is accumulated principally in the liver of the newborn infant, where it may induce cirrhosis, and in the lens of the eye, where cataracts may develop. Low glucose levels cause sufficient hypoglycemia to affect the central nervous system with resulting mental retardation. These ill effects can be prevented by removing milk and all other foods containing galactose and lactose from the diet.

galactosemia

[gə‚lak·tō′sē·mē·ə]
(medicine)
A congenital metabolic disorder caused by an enzyme deficiency and marked by high blood levels of galactose.
References in periodicals archive ?
Galactosemia is one of the carbohydrate metabolism disorders, which is inherited autosomal recessively.
Galactosemia is regarded as an entirely treatable disorder with symptoms ameliorated by simple dietary measures.
Newborn (NB) [4] screening for galactosemia is done primarily to detect clinically devastating galactosemia due to defective function of galactose-1-phosphate uridyltransferase (GALT) (1).